Variant report

Variant	rs4752999
Chromosome Location	chr11:47428565-47428566
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr11:47428435-47431694	IMR90	lung:	n/a	chr11:47430013-47430023 chr11:47428706-47428716
2	FOS	chr11:47428519-47428676	MCF10A-Er-Src	breast:	n/a	n/a
3	CTCF	chr11:47428520-47428670	Caco-2	colon:	n/a	n/a
4	POLR2A	chr11:47428389-47430514	SK-N-MC	brain:	n/a	n/a
5	POLR2A	chr11:47428446-47430424	Raji	blood:	n/a	n/a
6	MYC	chr11:47428564-47428665	MCF10A-Er-Src	breast:	n/a	n/a
7	MAFF	chr11:47428492-47428805	HepG2	liver:	n/a	n/a
8	CTCF	chr11:47428560-47428710	GM12864	blood:	n/a	n/a
9	MAFK	chr11:47428499-47428765	IMR90	lung:	n/a	chr11:47428629-47428644
10	HCFC1	chr11:47428525-47432352	Hela-S3	cervix:	n/a	n/a
11	FOS	chr11:47428551-47428645	MCF10A-Er-Src	breast:	n/a	n/a
12	CTCF	chr11:47428560-47428710	AoAF	blood vessel:	n/a	n/a
13	CTCF	chr11:47428540-47428690	AG04449	skin:	n/a	n/a
14	MAFK	chr11:47428511-47428749	Hela-S3	cervix:	n/a	chr11:47428629-47428644
15	GTF2F1	chr11:47428532-47428633	Hela-S3	cervix:	n/a	n/a
16	CTCF	chr11:47428500-47428650	HPF	lung:	n/a	n/a
17	MAFK	chr11:47428483-47428815	HepG2	liver:	n/a	chr11:47428629-47428644
18	CTCF	chr11:47428520-47428670	NHEK	skin:	n/a	n/a
19	CEBPB	chr11:47428441-47428861	K562	blood:	n/a	chr11:47428646-47428657
20	MYC	chr11:47428501-47428661	MCF10A-Er-Src	breast:	n/a	n/a
21	MAFK	chr11:47428502-47428829	H1-hESC	embryonic stem cell:	n/a	chr11:47428629-47428644
22	CTCF	chr11:47428520-47428670	HMF	breast:	n/a	n/a
23	CTCF	chr11:47428440-47428590	HEK293	kidney:	n/a	n/a
24	CEBPB	chr11:47428468-47428832	IMR90	lung:	n/a	chr11:47428646-47428657
25	CTCF	chr11:47428540-47428690	AG09309	skin:	n/a	n/a
26	CTCF	chr11:47428520-47428670	A549	lung:	n/a	n/a
27	MAFK	chr11:47428458-47428823	K562	blood:	n/a	chr11:47428629-47428644
28	CTCF	chr11:47428500-47428650	HEEpiC	esophagus:	n/a	n/a
29	CTCF	chr11:47428500-47428650	GM12864	blood:	n/a	n/a
30	POLR2A	chr11:47428438-47430102	GM12878	blood:	n/a	n/a
31	CTCF	chr11:47428503-47428646	H1-hESC	embryonic stem cell:	n/a	n/a
32	CTCF	chr11:47428560-47428710	BJ	skin:	n/a	n/a
33	CTCF	chr11:47428560-47428710	Caco-2	colon:	n/a	n/a
34	CTCF	chr11:47428540-47428690	AoAF	blood vessel:	n/a	n/a
35	POU2F2	chr11:47428391-47428874	GM12891	blood:	n/a	chr11:47428656-47428666 chr11:47428697-47428705 chr11:47428654-47428667 chr11:47428655-47428667 chr11:47428675-47428685 chr11:47428657-47428668 chr11:47428674-47428687 chr11:47428652-47428673 chr11:47428674-47428686 chr11:47428657-47428666 chr11:47428676-47428685 chr11:47428657-47428667 chr11:47428658-47428666 chr11:47428654-47428669 chr11:47428655-47428669 chr11:47428656-47428666 chr11:47428675-47428685 chr11:47428658-47428665 chr11:47428653-47428671 chr11:47428655-47428668
36	TEAD4	chr11:47428308-47428837	H1-hESC	embryonic stem cell:	n/a	n/a
37	CTCF	chr11:47428520-47428670	HBMEC	blood vessel:	n/a	n/a
38	CTCF	chr11:47428500-47428650	HCM	heart:	n/a	n/a
39	RAD21	chr11:47428289-47428808	H1-hESC	embryonic stem cell:	n/a	chr11:47428617-47428631
40	CEBPB	chr11:47428482-47428811	Hela-S3	cervix:	n/a	chr11:47428646-47428657
41	CTCF	chr11:47428440-47428590	HFF	foreskin:	n/a	n/a
42	CTCF	chr11:47428520-47428670	HPF	lung:	n/a	n/a
43	CTCF	chr11:47428560-47428710	MCF-7	breast:	n/a	n/a
44	POLR2A	chr11:47428475-47430484	K562	blood:	n/a	n/a
45	CTCF	chr11:47428560-47428710	AG04450	lung:	n/a	n/a
46	POU2F2	chr11:47428409-47428881	GM12878	blood:	n/a	chr11:47428656-47428666 chr11:47428697-47428705 chr11:47428654-47428667 chr11:47428655-47428667 chr11:47428675-47428685 chr11:47428657-47428668 chr11:47428674-47428687 chr11:47428652-47428673 chr11:47428674-47428686 chr11:47428657-47428666 chr11:47428676-47428685 chr11:47428657-47428667 chr11:47428658-47428666 chr11:47428654-47428669 chr11:47428655-47428669 chr11:47428656-47428666 chr11:47428675-47428685 chr11:47428658-47428665 chr11:47428653-47428671 chr11:47428655-47428668
47	TEAD4	chr11:47428408-47428937	K562	blood:	n/a	n/a
48	POLR2A	chr11:47428452-47430359	GM12878	blood:	n/a	n/a
49	CTCF	chr11:47428540-47428690	HVMF	connective:	n/a	n/a
50	CTCF	chr11:47428520-47428670	HCT-116	colon:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:47411629..47418031-chr11:47425327..47431880,15	K562	blood:
2	chr11:47426650..47429548-chr11:47599829..47602825,2	MCF-7	breast:
3	chr11:47290389..47294105-chr11:47428413..47432863,5	MCF-7	breast:
4	chr11:47428130..47431471-chr11:47462803..47464877,5	MCF-7	breast:
5	chr11:47394067..47402014-chr11:47426765..47432976,19	K562	blood:
6	chr11:47420444..47424832-chr11:47425633..47430159,5	MCF-7	breast:
7	chr11:47427429..47429907-chr11:47430975..47433040,2	MCF-7	breast:
8	chr11:47419914..47422605-chr11:47427478..47432259,7	K562	blood:
9	chr11:47197465..47200418-chr11:47428077..47430700,3	K562	blood:
10	chr11:47427968..47429864-chr11:47469091..47470991,2	MCF-7	breast:
11	chr11:47391440..47404809-chr11:47427075..47436409,23	K562	blood:
12	chr11:47427701..47430001-chr11:47598549..47600381,2	K562	blood:

Variant related genes	Relation type
SLC39A13	TF binding region
ENSG00000264583	Chromatin interaction
ENSG00000066336	Chromatin interaction
ENSG00000165917	Chromatin interaction
ENSG00000231880	Chromatin interaction
ENSG00000213619	Chromatin interaction
ENSG00000149182	Chromatin interaction
ENSG00000123444	Chromatin interaction
ENSG00000255197	Chromatin interaction
ENSG00000165915	Chromatin interaction
ENSG00000256746	Chromatin interaction
ENSG00000110514	Chromatin interaction

Extended variants
information (count: 101 )
Associated
traits (count: 17 )

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs1057233	1.00[CEU][hapmap];0.90[CHB][hapmap];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10734557	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10742803	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10769258	1.00[CEU][hapmap];0.86[CHB][hapmap];0.91[GIH][hapmap];0.91[MEX][hapmap];0.90[TSI][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10769262	1.00[CEU][hapmap];0.90[CHB][hapmap];0.92[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10838698	1.00[CEU][hapmap];0.86[CHB][hapmap];0.91[GIH][hapmap];0.91[MEX][hapmap];0.87[TSI][hapmap];0.89[EUR][1000 genomes]
rs10838699	1.00[CEU][hapmap];0.86[CHB][hapmap];0.89[EUR][1000 genomes]
rs10838704	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10838706	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10838708	0.95[CHB][hapmap];0.92[GIH][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs10838724	0.81[ASN][1000 genomes]
rs11039195	0.82[EUR][1000 genomes]
rs11039199	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11039200	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11039202	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11039203	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11039212	1.00[CEU][hapmap];0.90[CHB][hapmap];0.91[CHD][hapmap];0.88[GIH][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11039219	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11039238	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11039255	0.84[ASN][1000 genomes]
rs11570094	0.84[CEU][hapmap]
rs11600581	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11601603	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11604680	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11605672	1.00[CEU][hapmap];0.90[CHB][hapmap];0.86[CHD][hapmap];0.91[GIH][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11607981	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12146565	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12419692	0.89[CEU][hapmap];0.95[CHB][hapmap];0.86[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap]
rs12798346	0.89[CEU][hapmap];0.95[CHB][hapmap];0.88[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];0.84[MEX][hapmap];0.82[TSI][hapmap]
rs12802273	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12803525	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1317149	0.88[CEU][hapmap];0.95[CHB][hapmap];0.83[CHD][hapmap];0.95[JPT][hapmap];0.83[MEX][hapmap];0.83[ASN][1000 genomes]
rs1317164	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1542321	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2053979	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2053980	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2071304	1.00[CEU][hapmap];0.90[CHB][hapmap];0.82[EUR][1000 genomes]
rs2084946	0.88[EUR][1000 genomes]
rs2293577	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.90[TSI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2293578	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.83[MEX][hapmap];0.95[TSI][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2293580	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2856650	0.81[CEU][hapmap]
rs2868459	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34958982	0.89[CEU][hapmap];0.95[CHB][hapmap];0.88[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.82[TSI][hapmap];0.80[ASN][1000 genomes]
rs35184771	0.85[ASN][1000 genomes]
rs35496532	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35705029	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35996350	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3740686	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3781624	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3781625	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3781626	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.90[TSI][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3781627	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4752827	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4752832	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4752838	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4752845	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs4752987	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4752990	1.00[CEU][hapmap];0.90[CHB][hapmap];0.91[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4752993	0.81[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];0.91[CHD][hapmap];0.94[GIH][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.90[TSI][hapmap];0.92[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4752994	1.00[CEU][hapmap];0.90[CHB][hapmap];0.92[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4992357	1.00[CEU][hapmap];0.90[CHB][hapmap];0.91[CHD][hapmap];0.91[GIH][hapmap];0.91[MEX][hapmap];0.90[TSI][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55677087	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55876153	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55927797	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56030824	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs58965622	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60075622	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6485753	1.00[CEU][hapmap];0.90[CHB][hapmap];0.92[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6485756	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67116452	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs67472071	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7105851	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7106956	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7107726	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7111957	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7124681	1.00[CHB][hapmap];0.91[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs755553	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.90[TSI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs755554	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs755555	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7924485	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7925299	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs7925389	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7928163	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7928419	0.82[EUR][1000 genomes]
rs7928842	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs7937331	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.90[TSI][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7940536	1.00[CEU][hapmap];0.90[CHB][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs896815	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs896816	1.00[CEU][hapmap];0.90[CHB][hapmap];0.86[CHD][hapmap];0.91[GIH][hapmap];0.91[MEX][hapmap];0.90[TSI][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs935914	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897323	chr11:47182926-47460306	Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv917316	chr11:47232210-47448882	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
3	esv3330173	chr11:47289256-47450681	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
4	esv3416377	chr11:47289276-47450651	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
5	nsv832141	chr11:47333180-47520993	Flanking Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
6	nsv825871	chr11:47376020-47457537	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	nsv554210	chr11:47380593-47449544	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
8	nsv541034	chr11:47404083-47440081	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
9	nsv897325	chr11:47411736-47600438	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
10	nsv1036011	chr11:47413060-47582279	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases

mRNA abundance (count:17)

SNP	Gene	Cis/trans	Tissue	Source
rs4752999	MTCH2	cis	cerebellum	SCAN
rs4752999		cis	Lymphoblastoid	GTEx
rs4752999	FNBP4	Cis_1M	lymphoblastoid	RTeQTL
rs4752999	SPI1	cis	lymphoblastoid	seeQTL
rs4752999	C1QTNF4	cis	Muscle Skeletal	GTEx
rs4752999	C1QTNF4	cis	lymphoblastoid	seeQTL
rs4752999	SPI1	cis	Lymphoblastoid	GTEx
rs4752999	ACP2	cis	lymphoblastoid	seeQTL
rs4752999	Hs.6637	cis	multi-tissue	Pritchard
rs4752999	C1QTNF4	cis	Adipose Subcutaneous	GTEx
rs4752999	MYBPC3	cis	multi-tissue	Pritchard
rs4752999	C1QTNF4	cis	multi-tissue	Pritchard
rs4752999	SPI1	cis	multi-tissue	Pritchard
rs4752999	PSMC3	cis	parietal	SCAN
rs4752999	SLC39A13	cis	cerebellum	SCAN
rs4752999	SLC35C1	cis	parietal	SCAN
rs4752999	C1QTNF4	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47422200-47428800	Weak transcription	NH-A	brain
2	chr11:47422400-47428800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr11:47422400-47429000	Weak transcription	Fetal Brain Female	brain
4	chr11:47422600-47429000	Weak transcription	HSMMtube	muscle
5	chr11:47422800-47428600	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr11:47422800-47428800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr11:47422800-47428800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr11:47422800-47429000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr11:47422800-47429000	Weak transcription	Brain Angular Gyrus	brain
10	chr11:47423000-47428600	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr11:47423000-47428600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr11:47423000-47428600	Weak transcription	Brain Substantia Nigra	brain
13	chr11:47423000-47428800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr11:47423000-47428800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr11:47423200-47428600	Weak transcription	Fetal Heart	heart
16	chr11:47423400-47428600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr11:47423600-47428600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr11:47425400-47428600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr11:47426800-47428800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr11:47427400-47428800	Weak transcription	Fetal Kidney	kidney
21	chr11:47427600-47428600	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr11:47427800-47428600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr11:47427800-47428800	Enhancers	Primary hematopoietic stem cells	blood
24	chr11:47428000-47429000	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr11:47428200-47428800	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr11:47428200-47428800	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr11:47428200-47429000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr11:47428200-47429000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr11:47428200-47429000	Enhancers	Primary B cells from peripheral blood	blood
30	chr11:47428200-47429200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr11:47428200-47429600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
32	chr11:47428400-47428600	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr11:47428400-47428600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
34	chr11:47428400-47428600	Active TSS	Stomach Smooth Muscle	stomach
35	chr11:47428400-47428600	Enhancers	Hela-S3	cervix
36	chr11:47428400-47428800	Enhancers	H1 Cell Line	embryonic stem cell
37	chr11:47428400-47428800	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr11:47428400-47428800	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr11:47428400-47428800	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr11:47428400-47428800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr11:47428400-47428800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
42	chr11:47428400-47428800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr11:47428400-47428800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr11:47428400-47428800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr11:47428400-47428800	Enhancers	Brain Hippocampus Middle	brain
46	chr11:47428400-47428800	Enhancers	Pancreas	Pancrea
47	chr11:47428400-47428800	Enhancers	Psoas Muscle	Psoas
48	chr11:47428400-47428800	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr11:47428400-47428800	Enhancers	HepG2	liver
50	chr11:47428400-47428800	Enhancers	K562	blood

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